2,6-dihydroxybenzoic acid to phenylacetylglutamate

Numerator Metabolite

Structure of 2,6-dihydroxybenzoic acid
Metabolite Accession: GCST90200229
Name: 2,6-dihydroxybenzoic acid
Hmdb Id: HMDB0013676
Super Pathway: NA
Sub Pathway: NA
Inchikey: AKEUNCKRJATALU

Denominator Metabolite

Structure of phenylacetylglutamate
Metabolite Accession: GCST90200069
Name: phenylacetylglutamate
Hmdb Id: HMDB0059772
Super Pathway: NA
Sub Pathway: NA
Inchikey: PTSRBZOZSRJCKX

Associated Genomic Regions

Region: rs59569607;rs1937130

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.259
Position:
25787554
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-11.578
Reference Allele:
T
-log10(P):
-69.702
MAF:
0.428
Beta (Num):
-0.094
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.165
SE (Den):
0.017
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A4 SLC17A3 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Salicylic acid metabolism, Microbial metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Phenylalanine metabolism, Xenobiotic detoxification.5[1], 6[2]

Ratio Explanation:

An elevated ratio could indicate altered renal/intestinal excretion, where SLC17A4 dysfunction affects transport of urate and potentially 2,6-dihydroxybenzoic acid, a salicylate-like molecule.1[1], 7[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A missense variant in the urate/anion transporter SLC17A4 likely alters its function.8[1], 9[2] This dysfunction is associated with changes in uric acid levels and subsequently linked to downstream effects on hematological phenotypes like mean corpuscular hemoglobin (MCH) and hemoglobin (Hb).10[3], 11[4]

Phenotype Driver:

Gene-centric:SLC17A4

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data